(Q47907671)

6 February 2018

title

Performance of In Silico Tools for the Evaluation of UGT1A1 Missense Variants (English)

1 reference

6 February 2018

1 reference

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26377032%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

Elísio Costa

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26377032%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

Carina Rodrigues

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26377032%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

Elsa Bronze-Da-Rocha

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26377032%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

author name string

Carina Rodrigues

1

1 reference

6 February 2018

Elsa Bronze-da-Rocha

4

1 reference

6 February 2018

publication date

17 September 2015

1 reference

6 February 2018

published in

Human Mutation

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26377032%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

volume

36

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26377032%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

issue

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26377032%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

page(s)

1215-1225

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26377032%20AND%20SRC:MED&resulttype=core&format=json

Hansa: an automated method for discriminating disease and neutral human nsSNPs

2 June 2020

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22903

A method and server for predicting damaging missense mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22903

Analysis of genes for bilirubin UDP-glucuronosyltransferase in Gilbert's syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22903

Assessing the accuracy of prediction algorithms for classification: an overview

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22903

The genetic basis of the reduced expression of bilirubin UDP-glucuronosyltransferase 1 in Gilbert's syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22903

SNAP: predict effect of non-synonymous polymorphisms on function

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22903

SNAP predicts effect of mutations on protein function

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22903

Functional annotations improve the predictive score of human disease-related mutations in proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22903

Collective judgment predicts disease-associated single nucleotide variants

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22903

Predicting the insurgence of human genetic diseases associated to single point protein mutations with support vector machines and evolutionary information

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22903

Coding defect and a TATA box mutation at the bilirubin UDP-glucuronosyltransferase gene cause Crigler-Najjar type I disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22903

Hematologically important mutations: bilirubin UDP-glucuronosyltransferase gene mutations in Gilbert and Crigler-Najjar syndromes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22903

SNPeffect 4.0: on-line prediction of molecular and structural effects of protein-coding variants

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22903

Human Splicing Finder: an online bioinformatics tool to predict splicing signals

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22903

Prediction of deleterious non-synonymous single-nucleotide polymorphisms of human uridine diphosphate glucuronosyltransferase genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22903

Gilbert's syndrome: High frequency of the (TA)7 TAA allele in India and its interaction with a novel CAT insertion in promoter of the gene for bilirubin UDP-glucuronosyltransferase 1 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22903

PMUT: a web-based tool for the annotation of pathological mutations on proteins.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22903

Alternative splicing in disease and therapy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22903

Improving the assessment of the outcome of nonsynonymous SNVs with a consensus deleteriousness score, Condel.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22903

Statistical analysis of missense mutation classifiers

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22903

Prediction of missense mutation functionality depends on both the algorithm and sequence alignment employed

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22903

CGtag: complete genomics toolkit and annotation in a cloud-based Galaxy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22903

Screening for deleterious nonsynonymous single-nucleotide polymorphisms in genes involved in steroid hormone metabolism and response.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22903

Human allelic variation: perspective from protein function, structure, and evolution

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22903

Racial variability in haplotype frequencies of UGT1A1 and glucuronidation activity of a novel single nucleotide polymorphism 686C> T (P229L) found in an African-American

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22903

LS-SNP: large-scale annotation of coding non-synonymous SNPs based on multiple information sources.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22903

MAFFT Multiple Sequence Alignment Software Version 7: Improvements in Performance and Usability

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22903

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22903

Genetic heterogeneity of Crigler-Najjar syndrome type I: a study of 14 cases

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22903

Regulation of the UGT1A1 bilirubin-conjugating pathway: role of a new splicing event at the UGT1A locus

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22903

Automated inference of molecular mechanisms of disease from amino acid substitutions.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22903

Adaptive evolution of multiple-variable exons and structural diversity of drug-metabolizing enzymes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22903

Are splicing mutations the most frequent cause of hereditary disease?

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22903

The altered evolutionary trajectories of gene duplicates

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22903

Comparison of the predicted and observed secondary structure of T4 phage lysozyme

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22903

Large-scale gene function analysis with the PANTHER classification system

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22903

Predicting the effects of amino acid substitutions on protein function

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22903

SNPeffect v2.0: a new step in investigating the molecular phenotypic effects of human non-synonymous SNPs.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22903

Predicting the functional impact of protein mutations: application to cancer genomics

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22903

UGT1A1 haplotypes associated with reduced glucuronidation and increased serum bilirubin in irinotecan-administered Japanese patients with cancer

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22903

Discrimination between Crigler-Najjar type I and II by expression of mutant bilirubin uridine diphosphate-glucuronosyltransferase

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22903

Predicting the functional, molecular, and phenotypic consequences of amino acid substitutions using hidden Markov models

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22903

Evolutionary conservation predicts function of variants of the human organic cation transporter, OCT1

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22903

SIFT web server: predicting effects of amino acid substitutions on proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22903

Crigler-Najjar syndrome in The Netherlands: identification of four novel UGT1A1 alleles, genotype-phenotype correlation, and functional analysis of 10 missense mutants

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22903

Loss of exon identity is a common mechanism of human inherited disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22903

Physicochemical constraint violation by missense substitutions mediates impairment of protein function and disease severity

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22903

Family 1 uridine-5'-diphosphate glucuronosyltransferases (UGT1A): from Gilbert's syndrome to genetic organization and variability

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22903

Comprehensive statistical study of 452 BRCA1 missense substitutions with classification of eight recurrent substitutions as neutral

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22903

PANTHER: a browsable database of gene products organized by biological function, using curated protein family and subfamily classification

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22903

How to evaluate performance of prediction methods? Measures and their interpretation in variation effect analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22903

Guidelines for reporting and using prediction tools for genetic variation analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22903

SNPs, protein structure, and disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22903

SNPdryad: predicting deleterious non-synonymous human SNPs using only orthologous protein sequences

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22903

Performance of mutation pathogenicity prediction methods on missense variants

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22903

Analysis of the UDP-glucuronosyltransferase gene in Portuguese patients with a clinical diagnosis of Gilbert and Crigler–Najjar syndromes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22903

7 January 2021

Sequence-based prediction of pathological mutations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22903

7 January 2021

Variations of the bilirubin uridine-diphosphoglucuronosyl transferase 1A1 gene in healthy Taiwanese

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22903

7 January 2021

Association of a homozygous (TA)8 promoter polymorphism and a N400D mutation of UGT1A1 in a child with Crigler-Najjar type II syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22903

7 January 2021

Impact of UGT1A1 gene variants on total bilirubin levels in Gilbert syndrome patients and in healthy subjects

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22903

7 January 2021

Frequencies of A(TA)7TAA, G71R, and G493R mutations of the UGT1A1 gene in the Malaysian population

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22903

7 January 2021